Research Program

Research Interests

Role of DNA Repair in the stability of the genome and epigenome

Regulation of DNA methylation and DNA demethylation in development and cancer

Targeted epigenetic therapy

Hereditary Cancer

Lab Overview

The goal of our research is to clarify how alterations in genomic and epigenomic stability of CpG sequences lead to altered development and cancer formation. Mutations are often the consequence of defective DNA repair; we are particularly interested in the mammalian DNA repair enzymes that protect the integrity of CpG sequences in DNA: MBD4 and TDG. This is important because mutations at CpG sites represent about one third of all point mutations in cancer. In addition, CpG sites are also important for regulation of gene activity by an epigenetic process called DNA methylation. We discovered a role of TDG in active DNA demethylation (Cortellino et al. Cell, 2011), which is highly relevant in the context of the recently identified oxidized cytosine variants that have expanded the information content of the genome: TDG is the only enzyme that efficiently removes 5-formylcytosine and 5-carboxylcytosine produced by the TET dioxygenases.

We are also interested in innovative approaches of cancer prevention and therapy that are rationally based on the analysis of genetic and epigenetic alterations of cancer cells.

Finally, we are interested in the molecular basis of hereditary cancer syndromes.

Related News

PHILADELPHIA (July 13, 2017) – Fox Chase Cancer Center announced the results of its 2017 Supported Pilot Project and Supported High Throughput Screening Project competitions. Several researchers will receive funding as part of the center’s Cancer Center Support Grant (CCSG) from the National Cancer Institute. Three pilot projects and one high throughput screening project were recognized.

Related Blog Posts

October 2016 marked the 25th anniversary of a landmark study that originated in a laboratory at Fox Chase Cancer Center. It's considered the starting point for a plethora of research that significantly impacted the field of cancer.

"When I was an undergraduate student at the University of Bari in Italy, the molecular characterization of the Philadelphia chromosome was the first experiment I worked on. I would never have thought that almost a decade later, I would have the opportunity to work at Fox Chase Cancer Center, where the Philadelphia chromosome was co-discovered!"

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